ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3624C>T (p.Thr1208=) (rs730882125)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086917 SCV000211906 likely benign Familial adenomatous polyposis 1 2020-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163381 SCV000213921 likely benign Hereditary cancer-predisposing syndrome 2014-06-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000679057 SCV000512071 likely benign not provided 2020-03-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163381 SCV000681618 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679057 SCV000805400 likely benign not provided 2016-11-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679057 SCV001133326 benign not provided 2019-06-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000440935 SCV001361160 benign not specified 2019-09-12 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353704 SCV000591149 likely benign Carcinoma of colon no assertion criteria provided clinical testing The APC p.Thr1208Thr variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site; in addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. The variant was identified in the Exome Aggregation Consortium (ExAC) database in 23 of 66362 chromosomes from a population of European (non-Finnish) individuals (frequency: 0.0003), and in the the ClinVar database where it was classified as a likely benign variant by two submitters (Invitae and Ambry Genetics). The variant was not identified in the literature, nor was it identified in any other databases searched. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign.
Clinical Genetics,Academic Medical Center RCV000679057 SCV001922484 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000679057 SCV001957342 likely benign not provided no assertion criteria provided clinical testing

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